Canonical Allele Identifier: CA2209073469

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935678C= , CM000678.2:g.13935678C=	GRCh38
NC_000016.9:g.14029535C= , CM000678.1:g.14029535C=	GRCh37
NC_000016.8:g.13937036C=	NCBI36
NG_011442.1:g.20522C= , LRG_463:g.20522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1824C=
ENST00000682617.1:c.1884C=	ENSP00000507912.1:p.Asp628=
ENST00000682826.1:c.*1060C=	ENSP00000507274.1:n.*1060C=
ENST00000682909.1:n.3786C=
ENST00000683277.1:n.3391C=
ENST00000683407.1:n.1754C=
ENST00000683962.1:c.*1440C=	ENSP00000506854.1:n.*1440C=
ENST00000311895.8:c.1746C= MANE Select	ENSP00000310520.7:p.Asp582=
ENST00000311895.7:c.1746C=	ENSP00000310520.7:p.Asp582=
ENST00000389138.7:n.1023C=
NM_005236.2:c.1746C= , LRG_463t1:c.1746C=	NP_005227.1:p.Asp582=
XM_011522424.1:c.1884C=	XP_011520726.1:p.Asp628=
XM_011522425.1:c.1203C=	XP_011520727.1:p.Asp401=
XM_011522426.1:c.957C=	XP_011520728.1:p.Asp319=
XM_011522427.1:c.396C=	XP_011520729.1:p.Asp132=
XR_932805.1:n.1905C=
XM_011522424.3:c.1884C=	XP_011520726.1:p.Asp628=
XM_017023043.2:c.957C=	XP_016878532.1:p.Asp319=
NM_005236.3:c.1746C= MANE Select	NP_005227.1:p.Asp582=